Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited endocrinopathy characterized by tumours of the parathyroid glands, adenohypophyseal and pancreatic tumours. We present a case of a young, 24 years old female patient with a positive familial background for MEN1 (on the fathers side of the family). She is one of two sisters with determined heterozigocity of the MEN 1 gene (Exon 2, codon 111). At the age of 12, insulinoma of the head of the pancreas was diagnosed in our patient, with dimensions 2×2.5 cm. She underwent two operations in order to remove the insulinoma, with consecutive pancreatojejunostomia and duodenojejunostomia. In the same period, adenohypophyseal prolactinoma measuring 8 mm was diagnosed and Cabregoline therapy was initiated. One year before she got pregnant, primary hyperparathyroidism was diagnosed and hypoparathyroidectomy was counselled, but the patient did not decide to do the operation. The possible maternal and foetal complications of hyperparathyroidism were pointed out to the patient, but she decided to keep the pregnancy. The PTH values are above 100 pg/ml (ref. values 1565 pg/ml) with increased values of total and iodised calcium (1.51.65 mmol/l). The patient is currently in the seventh lunar month of the pregnancy, with reported normal foetal development by the gynaecologist, and delivery is planned for the 36th week of pregnancy.
20 - 23 May 2017
European Society of Endocrinology